Profile of eliglustat tartrate in the management of Gaucher disease

by Sechi, Annalisa, Dardis, Andrea, Bembi, Bruno
Published 2016

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance...

by Sechi, Annalisa, Nucifora, Gaetano, Piccoli, Gianluca, Dardis, Andrea, Bembi, Bruno
Published 2014

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

by Zampieri, Stefania, Bianchi, Ezio, Cantile, Carlo, Saleri, Roberta, Bembi, Bruno, Dardis, Andrea
Published 2014

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin

by Bergamin, Natascha, Dardis, Andrea, Beltrami, Antonio, Cesselli, Daniela, Rigo, Silvia, Zampieri, Stefania, Domenis, Rossana, Bembi, Bruno, Beltrami, Carlo Alberto
Published 2013

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

by Dardis, Andrea, Zanin, Irene, Zampieri, Stefania, Stuani, Cristiana, Pianta, Annalisa, Romanello, Milena, Baralle, Francisco E., Bembi, Bruno, Buratti, Emanuele
Published 2014

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

by Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Published 2010

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

by Sechi, Annalisa, Dardis, Andrea, Zampieri, Stefania, Rabacchi, Claudio, Zanoni, Paolo, Calandra, Sebastiano, De Maglio, Giovanna, Pizzolitto, Stefano, Maruotti, Valerio, Di Muzio, Antonio, Platt, Frances, Bembi, Bruno
Published 2014

Endosperm-specific expression of human acid beta-glucosidase in a waxy rice

by Patti, Tamara, Bembi, Bruno, Cristin, Piero, Mazzarol, Flavia, Secco, Erika, Pappalardo, Carla, Musetti, Rita, Martinuzzi, Maurizio, Versolatto, Serena, Cariati, Roberta, Dardis, Andrea, Marchetti, Stefano
Published 2012

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

by Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Published 2012

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

by Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Published 2016

Genotype-phenotype correlation in Pompe disease, a step forward

by De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Published 2014

Cerebrospinal Fluid Lysosomal Enzymes and Alpha-Synuclein in Parkinson's Disease

by Parnetti, Lucilla, Chiasserini, Davide, Persichetti, Emanuele, Eusebi, Paolo, Varghese, Shiji, Qureshi, Mohammad M, Dardis, Andrea, Deganuto, Marta, De Carlo, Claudia, Castrioto, Anna, Balducci, Chiara, Paciotti, Silvia, Tambasco, Nicola, Bembi, Bruno, Bonanni, Laura, Onofrj, Marco, Rossi, Aroldo, Beccari, Tommaso, El-Agnaf, Omar, Calabresi, Paolo
Published 2014

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

by Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
Published 2015